Article
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.
Nature genetics - 1 Feb 1997
Gourdon G, Radvanyi F, Lia A S, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H
Abstract excerpt
Myotonic dystrophy (DM) is associated with the expansion of a (CTG)n trinucleotide repeat in the 3' untranslated region (UTR) of the DM protein kinase gene (DMPK). The (CTG)n repeat is polymorphic and varies in size between 5 and 37 repeats in unaffected individuals whereas in affected patients there are between 50 and 4,000 CTGs. The size of the (CTG)n repeat, which increases through generations, generally...
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